Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
DLG4 SHINE Patients & Families
Our mission is to improve the lives of individuals with DLG4-related Synaptopathy by supporting research, developing treatments and therapies, and providing a community of support. We understand the challenges that families face when dealing with this rare disease, and we are committed to making a difference. By collaborating with researchers, healthcare professionals, and other organizations, we aim to accelerate medical advances focused on the treatment of DLG4 Synaptopathy.
"A hero is an extraordinary individual who finds strength to persevere and endure in spite of overwhelming obstacles."
Quick Reference Guides
As part of our committment to providing a community of support for families and caregivers, the DLG4 SHINE Foundation works on its own and in conjunction with partner organizations to develop resources and offer programs for our community. Below are details and corresponding links to download two reference guides, a Child Neurologist New Visit Toolkit, and information about SAMi - The Sleep Activity Monitor. Read through this information, download them for your convenience, and share them with others to help them understand more about DLG4 SHINE.
HOW TO SHINE - LIFE WITH DLG4 SYNAPTOPATHY
This comprehensive, user friendly, and interactive e-book was developed specifically for our DLG4 SHINE community. We encourage you to use it as a “living” resource that will be updated as needed. It's an incredibly useful for friends, families, medical teams, and anyone interested in or affected by DLG4 SHINE.
MEDICAL CARE CONSIDERATIONS
The Medical Care Considerations document was developed as a resource to assist and guide families and medical professionals caring for an individual with a DLG4-related synaptopathy diagnosis. Bring it to any doctor’s appointment to help them familiarize themselves with all the potential health concerns linked to this disorder and plan your loved one’s care.
CHILD NEUROLOGIST NEW VISIT TOOLKIT
Determining what information you need and which questions to ask during a neurology visit can be difficult. This Child Neurologist New Visit Toolkit will help you prepare for your child's appointment.
SAMi® - The Sleep Activity Monitor
We are excited to announce that the SHINE Syndrome Foundation has partnered with SAMi®! SAMi® is a video-based sleep activity monitor for parents, caregivers and individuals who need to watch carefully for unusual movements at night – specifically seizures. When abnormal movement is detected a loud alarm sounds and a live view is available to the caregiver. Events are automatically recorded and saved so that you can review and share with doctors.
Contact DLG4 SHINE Foundation, or reach out to SAMi® directly for a 10% off discount code! To request a scholarship for SAMi®, contact us at
Former DLG4 SHINE Foundation President, Laura Palmer discusses how the SAMi monitor dramatically improved her family's lives and how she hopes this partnership helps other families as well.
"I'm convinced it has saved our son's life countless times."
Understanding Your Genetics Report
When you receive a genetic test report, it can be overwhelming! What do all of those letters and numbers mean? Interpreting them is not for the faint of heart. Welcome to the world of rare diseases! If you have questions about your report, a genetic counselor is best suited to explain it to you. However, we often leave appointments with questions we wished we had asked or ones we didn’t think of until after the fact.